BACKGROUND: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the "real world" management of VHL disease.
METHODS: A national audit of VHL disease in the United Kingdom.
RESULTS: VHL disease was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over the study period, 19 genetic centres saw 842 individuals (393 males, 449 females) with a clinical and/or molecular diagnosis of VHL disease and 74 individuals (35 male, 39 female) with a prior risk of 50% (affected parent). All centres offered retinal, central nervous system and abdominal surveillance to affected individuals and at-risk relatives though surveillance details differed between centres (but complied with international recommendations). Renal lesions detected on the first surveillance scan were, on average, larger than those detected during subsequent scans and the larger the diameter at detection the greater the likelihood of early intervention.
CONCLUSIONS: In a state-funded health care system individuals with a rare inherited cancer predisposition syndrome are generally able to access appropriate surveillance and patient management is improved compared to historical data. The "real world" data from this study will inform the future development of VHL management protocols.
We acknowledge support from the NIHR UK Rare Genetic Disease Research Consortium. We also thank the many individuals who contributed to VHL clinical services in Leicester (Corrina Powell, Vanita Jivanji and Mark C Dalby), Manchester (Zerin Hyder, Ruth Heaton), North West Thames Regional Genetics Service (Lauren Limb), Wessex Clinical Genetics Service (Professor Diana Eccles), West Midlands Clinical Genetics Service (Sue Carless). We thank VHL Alliance UK fpatient support group or their help in designing the audit.
We thank the NIHR Cambridge Biomedical Research Centre and VHL Alliance UK for funding research into VHL disease. The University of Cambridge has received salary support (ERM, RNS) from the NHS in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NHS or Department of Health.
Data Availability StatementData are available to bona fide researchers from the corresponding authors.
- GERMLINE MUTATIONS
- GENETIC REGISTER
- SUPPRESSOR GENE